Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Juberg Marsidi syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
Radioulnar synostosis with developmental delay and hypotonia syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
Lipodystrophy, intellectual disability, deafness syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
7 |
Lowry MacLean syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
7 |
Intellectual disability, balding, patella luxation, acromicria syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
6 |
Intellectual disability with cataract and kyphosis syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
Kapur Toriello syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
Macrocephaly, short stature, paraplegia syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
10 |
MEDNIK syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
6 |
Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
Oculo-palato-cerebral syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
6 |
Oculocerebrofacial syndrome Kaufman type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
6 |
Okamoto syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
6 |
Orofaciodigital syndrome type 10 |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
7 |
Orofaciodigital syndrome type 5 |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
7 |
Orofaciodigital syndrome type 8 |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
7 |
Ossification anomaly with psychomotor developmental delay syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
6 |
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome |
Has interpretation |
False |
Impaired |
Inferred relationship |
Some |
9 |
Severe X-linked intellectual disability Gustavson type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
8 |
Agammaglobulinaemia, microcephaly, craniosynostosis, severe dermatitis syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
7 |
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
Congenital cataract with deafness and hypogonadism syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
6 |
Congenital cataract with hypertrichosis and intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
6 |
Intellectual disability, developmental delay, contracture syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
Toriello Carey syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
Skeletal dysplasia with intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
Microcephaly, seizure, intellectual disability, heart disease syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
6 |
Duplication/inversion 15q11 |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
Faciocardiorenal syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
Fallot complex with intellectual disability and growth delay syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
7 |
Hypotrichosis and intellectual disability syndrome Lopes type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
Microbrachycephaly, ptosis, cleft lip syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
N syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
Non-progressive cerebellar ataxia with intellectual disability |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
Phosphoribosylpyrophosphate synthetase superactivity |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
Ramos Arroyo syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome |
Has interpretation |
False |
Impaired |
Inferred relationship |
Some |
6 |
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
Seizures and intellectual disability due to hydroxylysinuria syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
7 |
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
MOMO syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
6 |
Laryngeal abductor paralysis with intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
Kleefstra syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
Infantile choroidocerebral calcification syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
Temple Baraitser syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
X-linked spasticity, intellectual disability, epilepsy syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
6 |
5-amino-4-imidazole carboxamide ribosiduria |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
Bullous dystrophy macular type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
Intellectual disability Buenos Aires type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
Neurofaciodigitorenal syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
CAMOS syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
Caudal appendage deafness syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
8 |
Central nervous system calcification, deafness, tubular acidosis, anaemia syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
8 |
Weaver Williams syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
Pfeiffer Palm Teller syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
6 |
Intellectual disability, cataract, calcified pinna, myopathy syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
6 |
X-linked intellectual disability Hedera type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
X-linked intellectual disability Nascimento type |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
6 |
Cortical blindness, intellectual disability, polydactyly syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
6 |
Osteopenia, intellectual disability, sparse hair syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
6 |
Brachydactyly and preaxial hallux varus syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
Spastic paraplegia with precocious puberty syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
6 |
Lambert syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
Epilepsy, microcephaly, skeletal dysplasia syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
7 |
Epilepsy telangiectasia syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
6 |
Bonnemann Meinecke Reich syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
Dysmorphism, short stature, deafness, disorder of sex development syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
7 |
Marfanoid habitus with autosomal recessive intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
Stimmler syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
8 |
Pseudoprogeria syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
8 |
Preaxial polydactyly, colobomata, intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
7 |
Van den Bosch syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
Aniridia, renal agenesis, psychomotor retardation syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
Thumb stiffness, brachydactyly, intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
C syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
Skeletal dysplasia with epilepsy and short stature syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
McDonough syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
MORM syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
GMS syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
Harrod syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
6 |
Goldblatt Wallis syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
Early onset parkinsonism and intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
Microcephaly with deafness and intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
7 |
Alopecia and intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
Urban Rogers Meyer syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
Female restricted epilepsy with intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
FRAXE intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
L1 syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
Trisomy 10p |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
5 |
Microphthalmia with ankyloblepharon and intellectual disability syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
Wolf Hirschhorn syndrome |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
Alpha-thalassaemia intellectual disability syndrome linked to chromosome 16 |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |